Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34018 | 102277;102278;102279 | chr2:178534563;178534562;178534561 | chr2:179399290;179399289;179399288 |
| N2AB | 32377 | 97354;97355;97356 | chr2:178534563;178534562;178534561 | chr2:179399290;179399289;179399288 |
| N2A | 31450 | 94573;94574;94575 | chr2:178534563;178534562;178534561 | chr2:179399290;179399289;179399288 |
| N2B | 24953 | 75082;75083;75084 | chr2:178534563;178534562;178534561 | chr2:179399290;179399289;179399288 |
| Novex-1 | 25078 | 75457;75458;75459 | chr2:178534563;178534562;178534561 | chr2:179399290;179399289;179399288 |
| Novex-2 | 25145 | 75658;75659;75660 | chr2:178534563;178534562;178534561 | chr2:179399290;179399289;179399288 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 206
- Q(SASA): 0.7884
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | None | N | None | 0.483 | 0.524584940466 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/D | None | None | None | N | None | 0.267 | 0.283761946502 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5167 | ambiguous | 0.3693 | ambiguous | 0.027 | Stabilizing | None | None | None | None | N | 0.493730365 | None | None | N |
| E/C | 0.9841 | likely_pathogenic | 0.9689 | pathogenic | -0.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.4599 | ambiguous | 0.3508 | ambiguous | -0.412 | Destabilizing | None | None | None | None | N | 0.442282824 | None | None | N |
| E/F | 0.9812 | likely_pathogenic | 0.9514 | pathogenic | -0.099 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.4892 | ambiguous | 0.3613 | ambiguous | -0.052 | Destabilizing | None | None | None | None | N | 0.502485921 | None | None | N |
| E/H | 0.9109 | likely_pathogenic | 0.8142 | pathogenic | 0.579 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9103 | likely_pathogenic | 0.8244 | pathogenic | 0.175 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.5245 | ambiguous | 0.3625 | ambiguous | 0.308 | Stabilizing | None | None | None | None | N | 0.430449677 | None | None | N |
| E/L | 0.9031 | likely_pathogenic | 0.8233 | pathogenic | 0.175 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9116 | likely_pathogenic | 0.8506 | pathogenic | -0.1 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.7564 | likely_pathogenic | 0.648 | pathogenic | 0.167 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9116 | likely_pathogenic | 0.8036 | pathogenic | 0.141 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.4422 | ambiguous | 0.3475 | ambiguous | 0.146 | Stabilizing | None | None | None | None | N | 0.49219157 | None | None | N |
| E/R | 0.6838 | likely_pathogenic | 0.5193 | ambiguous | 0.534 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.6196 | likely_pathogenic | 0.484 | ambiguous | 0.012 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.7248 | likely_pathogenic | 0.5954 | pathogenic | 0.085 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.7477 | likely_pathogenic | 0.6002 | pathogenic | 0.141 | Stabilizing | None | None | None | None | N | 0.489251182 | None | None | N |
| E/W | 0.9946 | likely_pathogenic | 0.9864 | pathogenic | -0.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9582 | likely_pathogenic | 0.9067 | pathogenic | 0.113 | Stabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.